Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.
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DOI：
10.3109/21678421.2013.787630
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发表时间：
2013-09
影响因子：
2.8
通讯作者：
Rademakers R
中科院分区：
文献类型：
--
作者：
van Blitterswijk M;Baker MC;Bieniek KF;Knopman DS;Josephs KA;Boeve B;Caselli R;Wszolek ZK;Petersen R;Graff-Radford NR;Boylan KB;Dickson DW;Rademakers R
最近在肌萎缩侧索硬化症（ALS）患者中发现了profilin-1（PFN 1）突变。由于ALS和额颞叶痴呆的常见亚型之间存在相当大的重叠，其特征在于反式反应DNA结合蛋白43病理学（FTLD-TDP），我们测试了ALS和FTLD-TDP患者的PFN 1突变队列。从我们门诊的342名ALS患者和141名FTLD-TDP患者以及美国杰克逊维尔佛罗里达马约诊所的神经变性疾病脑库中获得DNA。我们通过桑格测序对这些患者进行PFN 1编码区突变筛查。随后，我们使用TaqMan基因分型分析，以调查在1167名对照受试者中发现的变异。在1例ALS患者、1例FTLD-TDP患者和2例对照受试者中检测到一种变体p.E117G。患者与对照受试者的突变频率无显著差异（p值= 0.36）。此外，PFN 1和TDP-43染色的尸检材料没有不同的患者或没有这种变异。p.E117G变体似乎代表良性多态性。一般来说，PFN 1突变在ALS和FTLD-TDP患者中很少见。
Mutations in profilin-1 (PFN1) have recently been identified in patients with amyotrophic lateral sclerosis (ALS). Because of the considerable overlap between ALS and the common subtype of frontotemporal dementia, which is characterized by transactive response DNA-binding protein 43 pathology (FTLD-TDP), we tested cohorts of ALS and FTLD-TDP patients for PFN1 mutations. DNA was obtained from 342 ALS patients and 141 FTLD-TDP patients at our outpatient clinic and brain bank for neurodegenerative diseases at the Mayo Clinic Florida, Jacksonville, USA. We screened these patients for mutations in coding regions of PFN1 by Sanger sequencing. Subsequently, we used TaqMan genotyping assays to investigate the identified variant in 1167 control subjects. One variant, p.E117G, was detected in 1 ALS patient, 1 FTLD-TDP patient, and 2 control subjects. The mutation frequency of patients versus control subjects was not significantly different (p-value = 0.36). Moreover, PFN1 and TDP-43 staining of autopsy material did not differ between patients with or without this variant. The p.E117G variant appears to represent a benign polymorphism. PFN1 mutations, in general, are rare in ALS and FTLD-TDP patients.
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影响因子：
4.2
作者：
Ingre, Caroline;Landers, John E.;Weishaupt, Jochen H.
通讯作者：
Weishaupt, Jochen H.
影响因子：
3.5
作者：
Caraballo-Miralles, Victor;Cardona-Rossinyol, Andrea;Llado, Jeronia
通讯作者：
Llado, Jeronia
影响因子：
5.6
作者：
CARLSSON, L;NYSTROM, LE;LINDBERG, U
通讯作者：
LINDBERG, U
影响因子：
5.3
作者：
Shao, Jieya;Welch, William J.;Diamond, Marc I.
通讯作者：
Diamond, Marc I.
影响因子：
16.2
作者：
DeJesus-Hernandez M;Mackenzie IR;Boeve BF;Boxer AL;Baker M;Rutherford NJ;Nicholson AM;Finch NA;Flynn H;Adamson J;Kouri N;Wojtas A;Sengdy P;Hsiung GY;Karydas A;Seeley WW;Josephs KA;Coppola G;Geschwind DH;Wszolek ZK;Feldman H;Knopman DS;Petersen RC;Miller BL;Dickson DW;Boylan KB;Graff-Radford NR;Rademakers R
通讯作者：
Rademakers R